Version: 8.0.0
Date: Tue Jan 28 2025
pseudo-TORCH syndrome 1
DOID:0050656
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pseudo-TORCH syndrome 1

Definition
A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
Synonyms
  • band-like calcification with simplified gyration and polymicrogyria
  • Baraitser-Brett-Piesowicz syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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